Literature DB >> 26310152

Molecular Pathogenesis of Corneal Dystrophies: Schnyder Dystrophy and Granular Corneal Dystrophy type 2.

Eung Kweon Kim1, Hun Lee2, Seung-Il Choi3.   

Abstract

The International Committee for Classification of Corneal Dystrophies (IC3D) provides updated data to ophthalmologists by incorporating traditional definitions of corneal dystrophies with new genetic, clinical, and pathologic information. Recent advances in the genetics of corneal dystrophies facilitate more precise classifications and elucidate each classification's molecular mechanisms. Unfortunately, the molecular mechanisms and underlying pathogenic mechanisms have remained obscure, with the exception of Schnyder corneal dystrophy (CD), granular CD type 2 (GCD2), and Fuch's endothelial CD. Here, we review the pathogenesis of Schnyder CD and GCD2.
© 2015 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Granular corneal dystrophy type 2; Pathogenesis; Schnyder corneal dystrophy

Mesh:

Year:  2015        PMID: 26310152     DOI: 10.1016/bs.pmbts.2015.05.003

Source DB:  PubMed          Journal:  Prog Mol Biol Transl Sci        ISSN: 1877-1173            Impact factor:   3.622


  2 in total

1.  Vps35-deficiency impairs SLC4A11 trafficking and promotes corneal dystrophy.

Authors:  Wei Liu; Fu-Lei Tang; Sen Lin; Kai Zhao; Lin Mei; Jian Ye; Wen-Cheng Xiong
Journal:  PLoS One       Date:  2017-09-21       Impact factor: 3.240

2.  Clinical diversity in patients with Schnyder corneal dystrophy-a novel and known UBIAD1 pathogenic variants.

Authors:  Anna Sarosiak; Monika Udziela; Aneta Ścieżyńska; Dominika Oziębło; Anna Wawrzynowska; Jacek P Szaflik; Monika Ołdak
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2018-08-06       Impact factor: 3.117

  2 in total

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